A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730962



Internal ID10314598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:2580033..2636530hg38UCSC Ensembl
Outerchr10:2622225..2678722hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3856498
hg1956498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895832, essv6895843, essv6952845, essv6677459, essv6952846, essv6834575
SamplesSSM032, SSM082, SSM025, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2730962
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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